Comparison of the clinical characteristics of children with Silver–Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study
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İlker Tolga Özgen
,
Tuğçe Kandemir
,
Melek Yıldız
,
Şükran Poyrazoğlu
,
Zeynep Şıklar
,
Nilay Sema Abseyi
,
Merih Berberoğlu
,
Semra Çetinkaya
,
Senem Esen
,
Nursel Muratoğlu Şahin
,
Şükran Darcan
,
Deniz Özalp Kızılay
,
Ahmet Uçar
,
Hasan Karakaş
,
Olcay Evliyaoğlu
,
Leyla Akın
,
Murat Aydın
,
Atilla Çayır
,
Korcan Demir
,
Gözde Akın Kağızmanlı
,
Şükrü Hatun
,
Gül Yeşiltepe Mutlu
,
Elif Eviz
,
Bahar Özcabı
,
Hatice Nursoy
,
Semra Bahar
,
Zümrüt Kocabey Sütçü
und
Feyza Darendeliler
Abstract
Objectives
Silver–Russell syndrome (SRS) is a rare imprinting disorder characterized by intrauterine and postnatal growth retardation. Its genetic etiology shows a heterogeneous distribution. This study aimed to evaluate the clinical characteristics of children diagnosed with SRS, their response to growth hormone therapy, and compare the data of genetically confirmed and clinically diagnosed SRS cases.
Methods
A total of 69 patients were included in the study. Genetically confirmed cases were considered Group 1, and cases with a clinical diagnosis according to the Netchine–Harbison scoring system were considered Group 2. The anthropometric data of the patients at birth, at the time of diagnosis, before and during the first year of growth hormone (GH) treatment, final height-SDS values of patients who reached final height, and accompanying comorbidities were recorded.
Results
In Group 1, 75.8 % had hypomethylation in the ICR1 region, 13.7 % had maternal uniparental disomy 7, 6.8 % had an IGF-2 mutation, and 3 % had a duplication in the 11p15 region. Central precocious puberty, gastroenterological, and neurologic comorbidities were found to be more frequent than those from other systems. Final height-SDS was −2.32 ± 1.57 (n=5) in Group 1 and −2.41 ± 0.86 (n=5) in Group 2.
Conclusions
11p15 LOM was the most common genetic disorder in children with SRS in our case series. Gastroenterological problems and neurologic complications were observed frequently in these cases. Central precocious puberty was more commonly observed compared to the general population. The duration of treatment was the most critical factor in the success of GH therapy.
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Research ethics: The study was approved by the ethics committee of Bezmialem Vakıf University on 06.09.2023 with the number E-54022451-050.05.04-122621.
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Informed consent: Not applicable.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
References
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© 2025 Walter de Gruyter GmbH, Berlin/Boston
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Artikel in diesem Heft
- Frontmatter
- Editorial
- Endocrine treatment in Duchenne muscular dystrophy – current practices and future directions
- Reviews
- Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy
- Evaluating obesity and fat cells as possible important metabolic players in childhood leukemia
- Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review
- Original Articles
- The use of bisphosphonate and testosterone in young people with Duchenne muscular dystrophy: an international clinician survey
- Characterizing the metabolome of children with growth hormone deficiency
- Is L-dopa test effective in detecting adrenal insufficiency with preliminary diagnosis of growth hormone deficiency in children with short stature?
- Comparison of the clinical characteristics of children with Silver–Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study
- Testicular adrenal rest tumors in Indonesian boys with congenital adrenal hyperplasia
- Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis
- Case Reports
- Delayed diagnosis of retroperitoneal paraganglioma in an 8-year-old boy with persistent hypertension: a case report and review of diagnostic challenges in pediatric secondary hypertension
- Pediatric iatrogenic Cushing’s syndrome: a series of seven cases induced by topical corticosteroid use
- Wolcott–Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure – a case report
